Product Details

SNP ID

rs1063816

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:241594504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTCGTCAACTGACAGTGATTCA[C/T]CACTGGTGATGATAAAAATGATGGA

Phenotype

MIM: 603538 MIM: 606695

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KMO PubMed Links

Gene Details

Gene

KMO

Gene Name

kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003679.4	1278	UTR 3			NP_003670.2
XM_005273337.1	1278	Intron			XP_005273394.1
XM_005273338.3	1278	Intron			XP_005273395.1
XM_017002649.1	1278	Intron			XP_016858138.1
XM_017002650.1	1278	Intron			XP_016858139.1

Gene

OPN3

Gene Name

opsin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014322.2	1278	Missense Mutation	GAT,GGT	D378G	NP_055137.2

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